Hearing loss is the most prevalent disabling disease. Cochlear implantation（CI） serves as the primary intervention for severe to profound hearing loss. This consensus systematically explores the value of genetic diagnosis in the pre-operative assessment and efficacy prognosis for CI. Drawing upon domestic and international research and clinical experience, it proposes an evidence-based medicine three-tiered prognostic classification system（Favorable, Marginal, Poor）. The consensus focuses on common hereditary non-syndromic hearing loss（such as that caused by mutations in genes like GJB2, SLC26A4, OTOF, LOXHD1） and syndromic hereditary hearing loss（such as Jervell & Lange-Nielsen syndrome and Waardenburg syndrome）, which are closely associated with congenital hearing loss, analyzing the impact of their pathological mechanisms on CI outcomes. The consensus provides recommendations based on multiple round of expert discussion and voting. It emphasizes that genetic diagnosis can optimize patient selection, predict prognosis, guide post-operative rehabilitation, offer stratified management strategies for patients with different genotypes, and advance the application of precision medicine in the field of CI.
Humans ; Cochlear Implantation ; Prognosis ; Hearing Loss/surgery* ; Consensus ; Connexin 26 ; Mutation ; Sulfate Transporters ; Connexins/genetics*

BACKGROUND:Compared with conventional repetitive transcranial magnetic stimulation,Theta burst transcranial magnetic stimulation(TBS)has attracted extensive attention from scholars in various fields due to its advantages of short stimulation time,high efficiency,good safety and long-lasting effect,and the research popularity continues to rise.OBJECTIVE:Through the visual bibliometrics analysis of international TBS research in the past 20 years,to sort out the development context of TBS research,summarize the research status,reveal research hotspots and development trends,and provide reference for subsequent research.METHODS:Relevant studies on TBS from January 2005 to June 2024 were searched in the Web of Science Core Collection database.CiteSpace software was used to perform annual publication volume analysis,co-occurrence analysis of countries,institutions and authors,and co-citation analysis of references,journals and authors,keywords co-occurrence,clustering,time evolution and emergence analysis,and so on,and draw the visual knowledge map.RESULTS AND CONCLUSION:(1)After screening,a total of 1914 papers were included in the study,and the amount of TBS research has shown an overall increasing trend over the past 20 years,and it is expected to continue to be a hot topic of research in the future.(2)The top three countries in terms of number of publications are the United States,China and Italy,and the top three institutions are the University of Toronto,the University of London and Harvard Medical School.Pascual-leone Alvaro from Harvard Medical School has the most research achievements,and HUANG YZ from Chang Gung University has the most citations.NEURON is the most influential core journal.(3)Analyses of high-frequency keywords,highly cited references and clustering topics showed that the research hotspots of TBS in the past 20 years mainly focus on the mechanism of TBS on synaptic plasticity and neurophysiological activity,the effect of TBS on stimulating targets in different brain regions(including the motor cortex,dorsolateral prefrontal cortex,anterior cingulate cortex and cerebellum,etc.),and the therapeutic effect of TBS on neurological and psychiatric diseases(including depression,Parkinson's disease movement disorder,post-stroke movement disorder and cognitive impairment,and Alzheimer's disease memory disorders).(4)Keyword burst,literature emergence and keyword temporal evolution analyses showed that"major depression,application guidelines,rating scale,efficacy,disorder,refractory depression,meta-analysis,etc."are not only current research hotspots,but also future research trends.(5)In the future,TBS research should strengthen the regional cooperation of core authors and institutions,explore the clinical application in the treatment of refractory diseases,and realize the precision,personalization and optimization of TBS application by combining cutting-edge technologies and optimizing stimulus parameters,so as to solve more clinical problems.

BACKGROUND:Compared with conventional repetitive transcranial magnetic stimulation,Theta burst transcranial magnetic stimulation(TBS)has attracted extensive attention from scholars in various fields due to its advantages of short stimulation time,high efficiency,good safety and long-lasting effect,and the research popularity continues to rise.OBJECTIVE:Through the visual bibliometrics analysis of international TBS research in the past 20 years,to sort out the development context of TBS research,summarize the research status,reveal research hotspots and development trends,and provide reference for subsequent research.METHODS:Relevant studies on TBS from January 2005 to June 2024 were searched in the Web of Science Core Collection database.CiteSpace software was used to perform annual publication volume analysis,co-occurrence analysis of countries,institutions and authors,and co-citation analysis of references,journals and authors,keywords co-occurrence,clustering,time evolution and emergence analysis,and so on,and draw the visual knowledge map.RESULTS AND CONCLUSION:(1)After screening,a total of 1914 papers were included in the study,and the amount of TBS research has shown an overall increasing trend over the past 20 years,and it is expected to continue to be a hot topic of research in the future.(2)The top three countries in terms of number of publications are the United States,China and Italy,and the top three institutions are the University of Toronto,the University of London and Harvard Medical School.Pascual-leone Alvaro from Harvard Medical School has the most research achievements,and HUANG YZ from Chang Gung University has the most citations.NEURON is the most influential core journal.(3)Analyses of high-frequency keywords,highly cited references and clustering topics showed that the research hotspots of TBS in the past 20 years mainly focus on the mechanism of TBS on synaptic plasticity and neurophysiological activity,the effect of TBS on stimulating targets in different brain regions(including the motor cortex,dorsolateral prefrontal cortex,anterior cingulate cortex and cerebellum,etc.),and the therapeutic effect of TBS on neurological and psychiatric diseases(including depression,Parkinson's disease movement disorder,post-stroke movement disorder and cognitive impairment,and Alzheimer's disease memory disorders).(4)Keyword burst,literature emergence and keyword temporal evolution analyses showed that"major depression,application guidelines,rating scale,efficacy,disorder,refractory depression,meta-analysis,etc."are not only current research hotspots,but also future research trends.(5)In the future,TBS research should strengthen the regional cooperation of core authors and institutions,explore the clinical application in the treatment of refractory diseases,and realize the precision,personalization and optimization of TBS application by combining cutting-edge technologies and optimizing stimulus parameters,so as to solve more clinical problems.

Objective:To investigate the pathogenic gene locus and prenatal genetic diagnosis of 54 families with oculocutaneous albinism (OCA).Methods:This retrospective study enrolled 54 OCA probands and their families from Gansu Province Maternal and Child Health Care Hospital from May 2014 to May 2020. TYR gene variation screening was performed on the probands by Sanger sequencing. Those with negative results were analyzed by high-throughput sequencing, and further verification was performed on their parents by Sanger sequencing. Among the 54 families, 15 ml amniotic fluid were collected from 16 women at 18-21 gestational weeks in their subsequent pregnancy. Sanger sequencing combined with short tandem repeats sequence for linkage analysis were performed for genetic analysis. All data were analyzed using descriptive statistical analysis. Results:Out of the 54 OCA probands, 48 were diagnosed as OCA1, five were OCA2 and one was OCA4 based on the Sanger sequencing and high-throughput sequencing detection. A total of 26 different variation sites were involved in the 48 OCA1 probands, including 15 missense mutations, five nonsense mutations, three splicing mutations, and three frame-shift mutations, among which, c.929insC (29%, 28/96) was the most frequent mutation, followed by c.896G>A (11%, 11/96), c.832C>T (8%, 8/96) and c.703T>C (5%, 5/96). The diagnosis was confirmed in all 16 fetuses in the 16 families that underwent prenatal diagnosis. Five of them were affected and their mothers chose to terminate the pregnancies, the other 11 pregnancies continued to delivery, including seven heterozygous carriers and four fetuses without the same pathogenic allele as the proband. Maternal contamination was excluded in all prenatal samples using short tandem repeat for linkage analysis. All 11 children were in good health during telephone follow-up one month after birth. Postnatal validations were consistent with the prenatal tests.Conclusions:Genetic diagnosis could accurately identify various types of OCA and help to provide prenatal diagnosis and fertility consultation for subsequent pregnancies.

Objective: To explore the efficacy of ossiculoplasty surgery under oto-endoscope in patients of conductive hearing loss with intact tympanic membrane. Methods: A retrospective study was conducted. The clinical data of 45 patients with conductive hearing loss who had undergone simple ossiculoplasty surgery between October 2015 and December 2017 from five hospitals in China (West China Hospital of Sichuan University, General Hospital of the People′s Liberation Army, Shanghai Ninth People′s Hospital, Shanghai JiaoTong University School of Medicine, Xijing Hospital, Fourth Military Medical University and Shenzhen Sixth People′s Hospital) were collected. There were 28 males and 17 females, with the age ranging from 12 to 69 years old. The tympanic membranes of those patients were intact before surgery. The lesion only occurred in the ossicular chain from CT and intraoperative exploration. The cases of otosclerosis, tympanosclerosis, cholesteatoma of middle ear, chronic suppurative otitis media, and tumor of middle ear were excluded. The postoperative complications, hearing improvements and operation time were observed. SPSS 23.0 software was used for statistic analysis. Results: There was neither sensorineural hearing loss nor facial paralysis after surgery in this group. Seven patients had transient mild tinnitus after surgery and gradually relieved during the follow-up period. Nine patients developed dysgeusia after surgery. Two patients developed dizziness after surgery, and the symptoms were mild and relieved during 1 week without special intervention. The air-bone gap (ABG) range of pre-operation was 22.5-45.7 dB, and the average ABG was (25.3±8.6) dB. The ABG range in the third month after surgery was 5.7-26.8 dB, and the average ABG was (9.3±8.6) dB. The mean value of ABG was significantly lower in the third month after surgery compared with that of pre-operation (t=2.31, P<0.05). The operation time of the surgeons in each research center was similar. The overall average of operation time was (43.56±18.25) min. There was no significant difference in the duration of operation between the centers (F=3.26, P>0.05). Conclusion The ossiculoplasty surgery under oto-endoscope has good efficacy.

OBJECTIVETo retrospectively analyze the clinicopathology of patients with gastric gastrointestinal stromal tumor(gGIST) who underwent radical excision within 18 years in 10 domestic medical centers in order to understand the status of domestic surgical treatment of gGIST.

METHODSClinicopathological data of gGIST patients undergoing radical excision in 10 medical centers from January 1998 to January 2016 were collected, and their operational conditions, postoperative adjuvant therapy, gene detection and survival were analyzed retrospectively.

RESULTSA total of 1 846 cases were recruited in this study, including 246 cases from Guangdong General Hospital, 331 cases from Sun Yat-sen University Cancer Center, 374 cases from Union Hospital, Tongji Medical College of Huazhong University of Science and Technology, 342 cases from Nanfang Hospital of Southern Medical University, 265 cases from Fujian Medical University Union Hospital, 148 cases from Fudan University Shanghai Cancer Center, 49 cases from West China Hospital of Sichuan University, 43 cases from Peking University Cancer Hospital and Institute, 28 cases from the 81st Hospital of Pepole's Liberation Army(PLA), 20 cases from Cancer Hospital of China Medical University, Liaoning Cancer Hospital and Institute. There were 918 male (49.7%) and 928 female patients (50.3%) with median onset age of 59(18 to 95) years old. Fundus(735 cases, 39.8%) and body (781 cases, 42.3%) of stomach were the common sites of lesions. The average size of tumor was (5.3±4.6) cm. There were 1 421 cases with mitotic count ≤5(77.0%). According to the operation procedure, 924 cases (50.1%) underwent laparoscopic surgery, 759 cases (41.1%) laparotomy, 120 cases (6.5%) endoscopic surgery, and 20 cases (1.1%) laparoscopic combined with endoscopic surgery, 6 cases (0.3%) laparoscopic excision surgery through gastric wall and cavity, and 17 cases (0.9%) laparoscopy and then were transferred to laparotomy. Wedge excision were performed in 1 308 cases (70.9%), proximal gastric excision in 226 cases(12.2%), distal gastric excision in 92 cases (5.0%), total gastrectomy in 94 cases (5.1%), and local gastrectomy in 126 cases(6.8%). Multi-visceral excision was performed in 138 cases, and the splenectomy was performed in 83 cases(60.1%)with the highest ratio. According to modified NIH classification, 399 cases(21.6%) were extreme low risk, 580 cases(31.4%) were low risk, 424 cases(23.0%) were moderate risk, 443 cases (24.0%) were high risk. A total of 461 cases received postoperative imatinib adjuvant therapy, accounting for 53.2%(461/867) of patients with moderate and high risk. Among 1 846 cases, 1 402 cases (75.9%) had complete follow-up data and the median follow-up time was 33.6 (0.1 to 158) months. The 5-year survival rates of extreme low risk, low risk, moderate risk and high risk were 100%, 98.5%, 92.5%, and 79.2% with significant difference(P=0.000).

CONCLUSIONSGastric GIST occurs mostly in fundus and body of stomach in China. Wedge excision is the main operational procedure and laparoscopic operation is over 50%. General prognosis of gastric GIST is quite good.

Adolescent ; Adult ; Aged ; Aged, 80 and over ; Antineoplastic Agents ; therapeutic use ; China ; Combined Modality Therapy ; Female ; Gastrectomy ; Gastrointestinal Neoplasms ; Gastrointestinal Stromal Tumors ; pathology ; surgery ; Humans ; Imatinib Mesylate ; therapeutic use ; Laparoscopy ; Laparotomy ; Male ; Middle Aged ; Postoperative Period ; Prognosis ; Retrospective Studies ; Splenectomy ; Stomach Neoplasms ; pathology ; surgery ; Survival Rate ; Young Adult

Purpose:To study the expression level of bcl 2 gene in breast cancer tissues, paracancer tissues, metastatic lymph nodes and normal tissues. To study the relation of the gene expression and tumor formulation, development and clinical significance. Methods:Semi fixed quantity RT PCR was performed in 16 patients to detect the level of bcl 2 gene expression in cancer tissues, paracancer tissues, metastatic lymph nodes and normal tissues. Results:The relative values of mRNA in cancer tissues was 0.264?0.137 and 0.272?0.076 in metastatic lymph nodes and 0.131?0.083 in paracancer tissues were higher than those in normal tissue (0.033?0.031), so the difference was significant( P